Scientists launch deep dive into rare bleeding and lung disease
NCT ID NCT00001456
First seen Jun 26, 2026 · Last updated Jul 01, 2026 · Updated 2 times
Summary
This study aims to learn more about Hermansky-Pudlak Syndrome (HPS), a rare inherited disease that causes light skin/eye color, bleeding problems, and often deadly lung scarring. Researchers will follow 600 people with HPS and their family members to track how the disease progresses and collect samples for genetic and lab studies. The goal is to better understand the full range of complications and find clues for future treatments.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this research could reveal the underlying causes of HPS complications, pointing toward potential treatments or management strategies.
What could go wrong
This is an observational study, not a treatment trial. It may not directly lead to new therapies, and results may take years to translate into clinical practice.
Disclaimer
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This is a summary of
the original study
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States